Volume 52; Issue 2

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American Journal of Medical Genetics Part A
Volume 52; Issue 2

American Journal of Medical Genetics Part A

Volume 52; Issue 2

1

Masthead

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 156 KB

english, 1994

2

Epidemiology of congenital hydrocephalus in Utah, 1940–1979: Report of an iatrogenically related “epidemic”

Brent L. Blackburn, Dr. Robert M. Fineman

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 789 KB

english, 1994

3

Marked female predilection in some syndromes associated with facial hemangiomas

Robert J. Gorlin, Piranit Kantaputra, David J. Aughton, John B. Mulliken

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 609 KB

english, 1994

4

Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X-inactivation center hypothesis

Heath Cole, Bing Huang, Bonnie Anne Salbert, Judith Brown, Patricia N. Howard-Peebles, Susan H. Black, Andrew Dorfmann, Oscar R. Febles, Cathy A. Stevens, Colleen Jackson-Cook

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 990 KB

english, 1994

5

Arylsulfatase a psedodeficiency: A common polymorphism which is associated with a unique haplotype

Joël Zlotogora, Yael Furman-Shaharabani, Sandra Goldenfum, Bryan Winchester, Kurt Von Figura, Volkmar Gieselmann

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 447 KB

english, 1994

6

Preimplantation genetics: A case for prospective action

Eugene Pergament, Andrea Bonnicksen

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 817 KB

english, 1994

7

Molecular and clinical study of 61 Angelman syndrome patients

Shinji Saitoh, Naoki Harada, Yoshihiro Jinno, Katsuyo Hashimoto, Kiyoshi Imaizumi, Yoshikazu Kuroki, Yohimitsu Fukushima, Tateo Sugimoto, Mónica Renedo, Joseph Wagstaff, Marc Lalande, Apiwat Mutirangu

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 632 KB

english, 1994

8

Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients

Khalil Elbedour, Nili Zucker, Eli Zalzstein, Yechiel Barki, Dr. Rivka Carmi

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 455 KB

english, 1994

9

Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance

M. Rita Passos-Bueno, Suely K. Marie, Mario Monteiro, Isaac Neustein, Martin R. Whittle, Mariz Vainzof, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 382 KB

english, 1994

10

Apparent genetic homogeneity of the treacher Collins-Franceschetti syndrome

Patrick Edery, Yves Manach, Martine Le Merrer, Marianne Till, Alain Vignal, Stanislas Lyonnet, Arnold Munnich

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 310 KB

english, 1994

11

Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

Reema Mewar, Wilbur Harrison, David D. Weaver, Catherine Palmer, Margaret A. Davee, Dr. Joan Overhauser

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 569 KB

english, 1994

12

Duplication 10q confirmed by DNA in situ hybridization

Virginia P. Johnson, Willis C. Sutliff

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 397 KB

english, 1994

13

Diamniotic placentation associated with omphalopagus conjoined twins: Implications for a contemporary model of conjoined twinning

Raj P. Kapur, Rhona M. Jack, Joseph R. Siebert

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 857 KB

english, 1994

14

Megalocornea-mental retardation syndrome: An additional case

Guillermo Antiñolo, Miguel Rufo, Salud Borrego, Celia Morales

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 184 KB

english, 1994

15

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation

N. Abbadi, C. Philippe, M. Chery, H. Gilgenkrantz, F. Tome, H. Collin, D. Theau, D. Recan, O. Broux, M. Fardeau, J.-C. Kaplan, Pr. S. Gilgenkrantz

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 904 KB

english, 1994

16

Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease

Jean Pierre Hugot, Pierre Laurent-Puig, Corine Gower-Rousseau, Sophie Caillat-Zucman, Laurent Beaugerie, Jean-Louis Dupas, André Van Gossum, Catherine Bonaïti-Pellie, Antoine Cortot, Gilles Thomas, G.

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 695 KB

english, 1994

17

Jumping translocation in a newborn boy with dup (4q) and severe hydrops fetalis

Els Duval, Apollonia van den Enden, Piet Vanhaesebrouck, Frank Speleman

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 390 KB

english, 1994

18

Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins

M. S. van der Knaap, P. G. Barth

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 499 KB

english, 1994

19

Monozygotic twins discordant for gastroschisis: Case report and review of the literature of twins and familial occurrence of gastroschisis

Merete Bugge, Michael B. Petersen, M. Fjord Christensen

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 437 KB

english, 1994

20

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D

Dr. Wim J. Kleijer, Frits A. Beemer, Bart W. Boom

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 431 KB

english, 1994

21

Is fluphenazine a teratogen?

Prof. Paul Merlob, Bracha Stahl, Esther Maltz

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 157 KB

english, 1994

22

Wiedemann-Beckwith syndrome, imprinting, IGF2, and H19: Implications for hemihyperplasia, associated neoplasms, and overgrowth

Dr. M. Michael Cohen Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 194 KB

english, 1994

23

Wiedemann-Beckwith syndrome: Genomic imprinting revisited

Dr. Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 220 KB

english, 1994

24

Axial mesodermal dysplasia spectrum: Affected sisters with oculoauriculovertebral “dysplasia” and caudal “regression” sequence

Dr. N. R. Dennis, J. D. Atwell

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 183 KB

english, 1994

25

Detection of 46,XX male by Y-specific whole chromosome paint probe

Dr. Syed M. Jalal, Mark E. Law, Gordon W. Dewald, Gurbax S. Sekhon, Daniel L. Van Dyke

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 209 KB

english, 1994

26

Japanese kindred with FG syndrome

Rumiko Kato, Norio Niikawa, Toshiro Nagai, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 160 KB

english, 1994

27

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly

Satoshi Ishikiriyama, Michiyo Goto

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 109 KB

english, 1994

28

Angelman syndrome and vermian cyst

G. Incorpora, M. Cocuzza, T. Mattina

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 181 KB

english, 1994

29

X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V

G. Annerén, A. Amilon

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 199 KB

english, 1994

30

Familial Pallister-Hall syndrome: Three affected offspring

Irene N. Sills, Robert Rapaport, Franklin Desposito, Caroline Lieber

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 67 KB

english, 1994

31

Hereditary hemorrhagic telangiectasia: A disorder in search of the genetics community

Alan E. Guttmacher, Wendy C. McKinnon, Michael D. Upton

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 142 KB

english, 1994

32

NAS-NRC twin registry 1995 survey

William F. Page

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 75 KB

english, 1994

33

Books received

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 128 KB

english, 1994

34

Double trisomy (48,XXX, + 18)

Dr. M. Tsukahara, M. Fukuda, S. Furukawa, O. Kondoh

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 107 KB

english, 1994

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